Autonomic failures in Perry syndrome with DCTN1 mutation
Autonomic failures in Perry syndrome with DCTN1 mutation
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DOI：
10.1016/j.parkreldis.2010.07.001
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发表时间：
2010-11-01
影响因子：
4.1
通讯作者：
Shii, Hirofumi
中科院分区：
文献类型：
--
作者：
Ohshima, Sachiko;Tsuboi, Yoshio;Shii, Hirofumi
佩里综合征是一种家族性帕金森综合征，与中枢性肺通气不足、精神抑郁和体重减轻有关。以前，这种非常罕见的综合征在全世界仅在7个家族中报道，包括一个日本家族。最近，我们发现了另一个居住在日本的佩里综合征家族，该家族具有DCTN 1突变。这个家族的疾病表现为明显的自主神经功能障碍，包括直立性低血压和心脏摄取减少，具有[（123）] I-间碘苄胍心电图特征，这些特征在以前的病例中没有描述。由于中枢性通气不足，所有受影响的成员都需要通气辅助，这被认为对延长生存时间以及改善该综合征的生活质量有益（C）。2010爱思唯尔有限公司版权所有
Perry syndrome is a familial parkinsonism associated with central hypoventilation mental depression and weight loss Previously this very rare syndrome has been reported in only 7 families worldwide including in one Japanese family We recently identified an additional family with Perry syndrome with DCTN1 mutation residing in Japan The pedigree contains 19 family members spanning three generations with four affected individuals Affected members with early stage disease in this family presented with marked autonomic dysfunction including orthostatic hypotension and decreased cardiac uptake with [(123)]I-metaiodobenzylguanidine scintigram features that have not been described in previous cases Because of central hypoventilation all affected members need ventilation assistance which is thought beneficial for prolongation of survival time as well as improving quality of life in this syndrome (C) 2010 Elsevier Ltd All rights reserved